المؤلفون: Efil Bayam, Peggy Tilly, Stephan C Collins, José Rivera Alvarez, Meghna Kannan, Lucile Tonneau, Elena Brivio, Bruno Rinaldi, Romain Lecat, Noémie Schwaller, Ludovica Cotellessa, Sateesh Maddirevula, Fabiola Monteiro, Carlos M Guardia, João Paulo Kitajima, Fernando Kok, Mitsuhiro Kato, Ahlam A A Hamed, Mustafa A Salih, Saeed Al Tala, Mais O Hashem, Hiroko Tada, Hirotomo Saitsu, Mariano Stabile, Paolo Giacobini, Sylvie Friant, Zafer Yüksel, Mitsuko Nakashima, Fowzan S Alkuraya, Binnaz Yalcin, Juliette D Godin

المصدر: EMBO Molecular Medicine, Vol 17, Iss 1, Pp 129-168 (2024)

مصطلحات موضوعية: WDR47, Corpus Callosum Dysgenesis, Neurodevelopmental Disorder, Callosal Neurons, Microtubule and Mitochondrial Homeostasis, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1757-4684

URL الوصول: https://doaj.org/article/4825b143d3974af5a2d0c60faa5be790

المؤلفون: Kazuyuki Komatsu, Mitsuhiro Kato, Kazuo Kubota, Shinobu Fukumura, Keitaro Yamada, Ikumi Hori, Kenji Shimizu, Sachiko Miyamoto, Kaori Yamoto, Takuya Hiraide, Kazuki Watanabe, Shintaro Aoki, Shogo Furukawa, Taiju Hayashi, Masaharu Isogai, Takuma Harasaki, Mitsuko Nakashima, Hirotomo Saitsu

المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-11 (2024)

مصطلحات موضوعية: Neurological rare diseases, Exome sequencing, Annotation, De novo variant, Splicing abnormality, Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/20d642f57d7841aeb22a94d0268d9ad2

المؤلفون: Masayuki Ohira, Hirotomo Saitsu, Mitsuko Nakashima, Noriko Sato, Ken Inoue, Masaki Takao

المصدر: BMC Neurology, Vol 24, Iss 1, Pp 1-6 (2024)

مصطلحات موضوعية: CLCN2-related leukoencephalopathy, Chloride channel 2, Headache, Dizziness, Case report, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2377

URL الوصول: https://doaj.org/article/6aeee3bcfcc341a9a1d410bfb632aa64

المؤلفون: Kaori Yamoto, Kosuke Yamada, Kenji Shimizu, Sachiko Miyamoto, Mitsuko Nakashima, Hirotomo Saitsu

المصدر: Molecular Genetics & Genomic Medicine, Vol 12, Iss 12, Pp n/a-n/a (2024)

مصطلحات موضوعية: ERCC8, homozygous deletion, NDUFAF2, RNA sequencing, uniparental disomy, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/9097a80962314a7eb8af4c185299e13f

المؤلفون: Kaori Yamoto, Hirotomo Saitsu, Yumiko Ohkubo, Masayo Kagami, Tsutomu Ogata

المصدر: Clinical Epigenetics, Vol 16, Iss 1, Pp 1-8 (2024)

مصطلحات موضوعية: HMGA2, Silver–Russell syndrome, Whole exome sequencing, 12q14 microdeletion, IGF2, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1868-7083

URL الوصول: https://doaj.org/article/9cf4fe0220874c3a8c9ee1779e53c17d

المؤلفون: Yohei Masunaga, Hiroyuki Ono, Yasuko Fujisawa, Kiyosu Taniguchi, Hirotomo Saitsu, Tsutomu Ogata

المصدر: Endocrine Journal, Vol 71, Iss 1, Pp 75-81 (2024)

مصطلحات موضوعية: sotos syndrome, overgrowth, nuclear receptor binding set domain protein 1 (nsd1), whole exome sequencing, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.jstage.jst.go.jp/article/endocrj/71/1/71_EJ23-0502/_html/-char/en; https://doaj.org/toc/1348-4540

URL الوصول: https://doaj.org/article/116442cda004408485d26080bfe322ef

المؤلفون: Kazuki Watanabe, Kazuo Kubota, Mitsuko Nakashima, Hirotomo Saitsu

المصدر: Human Genome Variation, Vol 10, Iss 1, Pp 1-4 (2023)

مصطلحات موضوعية: Genetics, QH426-470, Life, QH501-531

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2054-345X

URL الوصول: https://doaj.org/article/8acddef92d0a44a4af5a7256955701de

المؤلفون: Takuya Hiraide, Taiju Hayashi, Yusuke Ito, Rei Urushibata, Hiroshi Uchida, Ryoichi Kitagata, Hidetoshi Ishigaki, Tsutomu Ogata, Hirotomo Saitsu, Tokiko Fukuda

المصدر: Frontiers in Pediatrics, Vol 12 (2024)

مصطلحات موضوعية: TPRKB, Galloway-Mowat syndrome, exome sequencing, KEOPS complex, nephrotic proteinuria, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2024.1360867/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/a28fbfd4cd46484887be74193707235f

المؤلفون: Yu Kobayashi, Jun Tohyama, Noriyuki Akasaka, Kei Yamada, Moemi Hojo, Eijun Seki, Masaki Miura, Noriko Soma, Takeshi Ono, Mitsuhiro Kato, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto

المصدر: Human Genome Variation, Vol 10, Iss 1, Pp 1-4 (2023)

مصطلحات موضوعية: Genetics, QH426-470, Life, QH501-531

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2054-345X

URL الوصول: https://doaj.org/article/8c9ba6e51dcb45b48775cdd7c561dd8e

المؤلفون: Atsushi Fujita, Mitsuhiro Kato, Hidenori Sugano, Yasushi Iimura, Hiroharu Suzuki, Jun Tohyama, Masafumi Fukuda, Yosuke Ito, Shimpei Baba, Tohru Okanishi, Hideo Enoki, Ayataka Fujimoto, Akiyo Yamamoto, Kentaro Kawamura, Shinsuke Kato, Ryoko Honda, Tomonori Ono, Hideaki Shiraishi, Kiyoshi Egawa, Kentaro Shirai, Shinji Yamamoto, Itaru Hayakawa, Hisashi Kawawaki, Ken Saida, Naomi Tsuchida, Yuri Uchiyama, Kohei Hamanaka, Satoko Miyatake, Takeshi Mizuguchi, Mitsuko Nakashima, Hirotomo Saitsu, Noriko Miyake, Akiyoshi Kakita, Naomichi Matsumoto

المصدر: Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-11 (2023)

مصطلحات موضوعية: Focal cortical dysplasia, LEATs, mTOR, RAS/MAPK, Somatic variants, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2051-5960

URL الوصول: https://doaj.org/article/6d39077dbc52426b8b9d6e2a39958a82

المؤلفون: Hazuki Morikawa, Sachiko Nishina, Kaoruko Torii, Katsuhiro Hosono, Tadashi Yokoi, Chika Shigeyasu, Masakazu Yamada, Motomichi Kosuga, Maki Fukami, Hirotomo Saitsu, Noriyuki Azuma, Yuichi Hori, Yoshihiro Hotta

المصدر: Human Genome Variation, Vol 10, Iss 1, Pp 1-4 (2023)

مصطلحات موضوعية: Genetics, QH426-470, Life, QH501-531

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2054-345X

URL الوصول: https://doaj.org/article/de27436ffd084792a034d5c935776302

المؤلفون: Yohei Masunaga, Gen Nishimura, Koji Takahashi, Tomiyuki Hishiyama, Masatoshi Imamura, Kenichi Kashimada, Machiko Kadoya, Yoshinao Wada, Nobuhiko Okamoto, Daiju Oba, Hirofumi Ohashi, Mitsuru Ikeno, Yuko Sakamoto, Maki Fukami, Hirotomo Saitsu, Tsutomu Ogata

المصدر: Scientific Reports, Vol 12, Iss 1, Pp 1-11 (2022)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/e26226f888b84c3dbfc3918a055ce68e

المؤلفون: Karin Kojima, Takahito Wada, Hiroko Shimbo, Takahiro Ikeda, Eriko F. Jimbo, Hirotomo Saitsu, Naomichi Matsumoto, Takanori Yamagata

المصدر: Human Genome Variation, Vol 9, Iss 1, Pp 1-4 (2022)

مصطلحات موضوعية: Genetics, QH426-470, Life, QH501-531

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2054-345X

URL الوصول: https://doaj.org/article/0e8b6c11d10d4478806d1488eb8610f0

المؤلفون: Yuri Yoh, Tadashi Shiohama, Tomoko Uchida, Ryota Ebata, Hironobu Kobayashi, Kentaro Okunushi, Mitsuhiro Kato, Kazuki Watanabe, Mitsuko Nakashima, Hirotomo Saitsu, Hiromichi Hamada

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: megalencephaly-capillary malformation syndrome, overgrowth syndrome, pulmonary arterial hypertension, PIK3CA, PI3K/Akt/mTOR pathway, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1221745/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/76d7c2d39b6c49a0b670eaf6c4b45ba8

المؤلفون: Kohei Hamanaka, Noriko Miyake, Takeshi Mizuguchi, Satoko Miyatake, Yuri Uchiyama, Naomi Tsuchida, Futoshi Sekiguchi, Satomi Mitsuhashi, Yoshinori Tsurusaki, Mitsuko Nakashima, Hirotomo Saitsu, Kohei Yamada, Masamune Sakamoto, Hiromi Fukuda, Sachiko Ohori, Ken Saida, Toshiyuki Itai, Yoshiteru Azuma, Eriko Koshimizu, Atsushi Fujita, Biray Erturk, Yoko Hiraki, Gaik-Siew Ch’ng, Mitsuhiro Kato, Nobuhiko Okamoto, Atsushi Takata, Naomichi Matsumoto

المصدر: Genome Medicine, Vol 14, Iss 1, Pp 1-20 (2022)

مصطلحات موضوعية: Neurodevelopmental disorder, Intellectual disability, Epileptic encephalopathy, Autism spectrum disorder, Rare disease, De novo variant, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/212f0ca078af48c5b6f2a1dc43fa5a9d

المؤلفون: Azusa Ikeda, Tatsuro Kumaki, Yu Tsuyusaki, Megumi Tsuji, Yumi Enomoto, Atsushi Fujita, Hirotomo Saitsu, Naomichi Matsumoto, Kenji Kurosawa, Tomohide Goto

المصدر: Frontiers in Neurology, Vol 14 (2023)

مصطلحات موضوعية: hereditary spastic paraplegia, pediatric-onset hereditary spastic paraplegia, genetic sequencing, diagnostic yield, sporadic, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1085228/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/7df6844202eb4026aeac4dfb66f83619

المؤلفون: Takefumi Higashijima, Hiroshi Shirozu, Hirotomo Saitsu, Masaki Sonoda, Atsushi Fujita, Hiroshi Masuda, Tetsuya Yamamoto, Naomichi Matsumoto, Shigeki Kameyama

المصدر: Heliyon, Vol 9, Iss 4, Pp e14712- (2023)

مصطلحات موضوعية: Hypothalamic hamartoma, Sonic hedgehog, Hippocampal infolding angle, Hippocampal inversion, Genetic mutation, Science (General), Q1-390, Social sciences (General), H1-99

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2405844023019199; https://doaj.org/toc/2405-8440

URL الوصول: https://doaj.org/article/35aafacf3d3745b59adedc8cbc6d8331

المؤلفون: Shogo Furukawa, Sachiko Miyamoto, Shinobu Fukumura, Kazuo Kubota, Toshiaki Taga, Mitsuko Nakashima, Hirotomo Saitsu

المصدر: Human Genome Variation, Vol 9, Iss 1, Pp 1-4 (2022)

مصطلحات موضوعية: Genetics, QH426-470, Life, QH501-531

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2054-345X

URL الوصول: https://doaj.org/article/6630bd805fb444b28dd9a7bcfee0fe68

المؤلفون: Kaoruko Torii, Sachiko Nishina, Hazuki Morikawa, Kei Mizobuchi, Masakazu Takayama, Nobutaka Tachibana, Kentaro Kurata, Akiko Hikoya, Miho Sato, Tadashi Nakano, Maki Fukami, Noriyuki Azuma, Takaaki Hayashi, Hirotomo Saitsu, Yoshihiro Hotta

المصدر: International Journal of Molecular Sciences ; Volume 24 ; Issue 18 ; Pages: 13678

مصطلحات موضوعية: Leber congenital amaurosis (LCA), RPGRIP1, whole-exome sequencing (WES), whole-genome sequencing (WGS), structural abnormalities, prevalent variant, retinal layer structure

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms241813678

الاتاحة: https://doi.org/10.3390/ijms241813678

المؤلفون: Marina Hashiguchi, Yukifumi Monden, Yasuyuki Nozaki, Kazuki Watanabe, Mitsuko Nakashima, Hirotomo Saitsu, Takanori Yamagata, Hitoshi Osaka

المصدر: Human Genome Variation, Vol 9, Iss 1, Pp 1-3 (2022)

مصطلحات موضوعية: Genetics, QH426-470, Life, QH501-531

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2054-345X

URL الوصول: https://doaj.org/article/12b74c1ddba54480a6e8a2d45216b9bc